%0 Journal Article
%A Ji, Xuemei
%A Mukherjee, Semanti
%A Landi, Maria Teresa
%A Bosse, Yohan
%A Joubert, Philippe
%A Zhu, Dakai
%A Gorlov, Ivan
%A Xiao, Xiangjun
%A Han, Younghun
%A Gorlova, Olga
%A Hung, Rayjean J
%A Brhane, Yonathan
%A Carreras-Torres, Robert
%A Christiani, David C
%A Caporaso, Neil
%A Johansson, Mattias
%A Liu, Geoffrey
%A Bojesen, Stig E
%A Le Marchand, Loic
%A Albanes, Demetrios
%A Bickeböller, Heike
%A Aldrich, Melinda C
%A Bush, William S
%A Tardon, Adonina
%A Rennert, Gad
%A Chen, Chu
%A Byun, Jinyoung
%A Dragnev, Konstantin H
%A Field, John K
%A Kiemeney, Lambertus Fa
%A Lazarus, Philip
%A Zienolddiny, Shan
%A Lam, Stephen
%A Schabath, Matthew B
%A Andrew, Angeline S
%A Bertazzi, Pier A
%A Pesatori, Angela C
%A Diao, Nancy
%A Su, Li
%A Song, Lei
%A Zhang, Ruyang
%A Leighl, Natasha
%A Johansen, Jakob S
%A Mellemgaard, Anders
%A Saliba, Walid
%A Haiman, Christopher
%A Wilkens, Lynne
%A Fernandez-Somoano, Ana
%A Fernandez-Tardon, Guillermo
%A Heijden, Erik H F M van der
%A Kim, Jin Hee
%A Davies, Michael P A
%A Marcus, Michael W
%A Brunnström, Hans
%A Manjer, Jonas
%A Melander, Olle
%A Muller, David C
%A Overvad, Kim
%A Trichopoulou, Antonia
%A Tumino, Rosario
%A Goodman, Gary E
%A Cox, Angela
%A Taylor, Fiona
%A Woll, Penella
%A Wichmann, Erich
%A Muley, Thomas
%A Risch, Angela
%A Rosenberger, Albert
%A Grankvist, Kjell
%A Johansson, Mikael
%A Shepherd, Frances
%A Tsao, Ming-Sound
%A Arnold, Susanne M
%A Haura, Eric B
%A Bolca, Ciprian
%A Holcatova, Ivana
%A Janout, Vladimir
%A Kontic, Milica
%A Lissowska, Jolanta
%A Mukeria, Anush
%A Ognjanovic, Simona
%A Orlowski, Tadeusz M
%A Scelo, Ghislaine
%A Swiatkowska, Beata
%A Zaridze, David
%A Bakke, Per
%A Skaug, Vidar
%A Butler, Lesley M
%A Offit, Kenneth
%A Srinivasan, Preethi
%A Bandlamudi, Chaitanya
%A Hellmann, Matthew D
%A Solit, David B
%A Robson, Mark E
%A Rudin, Charles M
%A Stadler, Zsofia K
%A Taylor, Barry S
%A Berger, Michael F
%A Houlston, Richard
%A McLaughlin, John
%A Stevens, Victoria
%A Nickle, David C
%A Obeidat, Ma'en
%A Timens, Wim
%A Artigas, María Soler
%A Shete, Sanjay
%A Brenner, Hermann
%A Chanock, Stephen
%A Brennan, Paul
%A McKay, James D
%A Amos, Christopher I
%T Protein-altering germline mutations implicate novel genes related to lung cancer development.
%J Nature Communications
%V 11
%N 1
%@ 2041-1723
%C [London]
%I Nature Publishing Group UK
%M DKFZ-2020-01020
%P 2220
%D 2020
%X Few germline mutations are known to affect lung cancer risk. We performed analyses of rare variants from 39,146 individuals of European ancestry and investigated gene expression levels in 7,773 samples. We find a large-effect association with an ATM L2307F (rs56009889) mutation in adenocarcinoma for discovery (adjusted Odds Ratio = 8.82, P = 1.18 × 10-15) and replication (adjusted OR = 2.93, P = 2.22 × 10-3) that is more pronounced in females (adjusted OR = 6.81 and 3.19 and for discovery and replication). We observe an excess loss of heterozygosity in lung tumors among ATM L2307F allele carriers. L2307F is more frequent (4
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:32393777
%R 10.1038/s41467-020-15905-6
%U https://inrepo02.dkfz.de/record/154776